Disorder "Procollagen Type I C-Terminal Peptide"
Found 3 records
Disorder information
Disorder name:
Procollagen Type I C-Terminal Peptide
Disoder ID:
Synonyms:
PICP, Procollagen Type I C-Terminal Peptide, Collagen Type I C-Terminal Propeptide, Collagen Type 1 C-Terminal Propeptide, Procollagen Type 1 C-Terminal Peptide, P1CP
Definition:
This polypeptide is comprised of the carboxy-terminal portions of procollagen, which are proteolytically removed by bone morphogenetic protein 1 during the intracellular formation of type I collagen fibrils. Increased plasma or serum concentrations of these peptides are associated with both fibrillogenesis of type I collagen and bone formation.
Modifier statisitcs
Record:
3
Gene:
1
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered severity(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL1A1 | COL1A1:rs147266928 | Expressivity | Altered severity | Gene activity study | The polymorphism is associated with the disease severity.more | more |
| COL1A1:rs376024832 | Expressivity | Altered severity | Gene activity study | The polymorphism is associated with the disease severity.more | more | |
| COL1A1:rs961105065 | Expressivity | Altered severity | Gene activity study | The polymorphism is associated with the disease severity.more | more |
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